O43581
PR
Gene name |
SYT7 |
Protein name |
Synaptotagmin-7 |
Names |
IPCA-7, Prostate cancer-associated protein 7, Synaptotagmin VII, SytVII |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9066 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O43581
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2D8K | NMR | - | A | 132-259 | PDB |
| AF-O43581-F1 | Predicted | AlphaFoldDB |
258 variants for O43581
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs999163469 CA222904379 |
3 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1489876314 CA380679229 |
5 | P>Q | No |
ClinGen gnomAD |
|
|
CA222904373 rs902150838 |
7 | A>T | No |
ClinGen TOPMed |
|
|
CA380679199 rs1268352531 |
7 | A>V | No |
ClinGen gnomAD |
|
|
CA222904370 rs1046141865 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1249937188 CA380679187 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA380679178 rs1590972927 |
9 | S>I | No |
ClinGen Ensembl |
|
|
COSM689307 rs1273686857 CA380674732 |
12 | A>P | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1273686857 CA380674719 |
12 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6036204 rs749610042 |
12 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380674707 rs1304767106 |
13 | P>L | No |
ClinGen gnomAD |
|
|
rs567594237 CA6036202 |
14 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567594237 CA380674688 |
14 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380674676 rs1333134260 |
15 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6036199 rs372163020 |
16 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147650793 CA6036198 |
17 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA222888551 rs940477308 |
20 | V>F | No |
ClinGen Ensembl |
|
|
rs1181641529 CA380674538 |
22 | A>V | No |
ClinGen gnomAD |
|
|
rs373590340 CA6036195 |
23 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380674534 rs1440865103 |
23 | I>V | No |
ClinGen gnomAD |
|
|
CA6036194 rs764503467 |
24 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370950915 CA222888525 |
26 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs370950915 CA6036192 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs527734585 CA6036191 |
28 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs1258437013 CA380674406 |
30 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 31 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142606373 CA6036187 |
33 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142606373 CA222888473 |
33 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144496851 CA6036186 |
34 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144496851 CA6036185 |
34 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs746816972 CA6036184 |
36 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335102301 CA380674174 |
40 | W>C | No |
ClinGen gnomAD |
|
|
CA380674095 rs1298431470 |
43 | R>C | No |
ClinGen TOPMed |
|
|
rs368577686 CA6036183 |
43 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA222888417 rs749807013 |
44 | K>I | No |
ClinGen Ensembl |
|
|
rs1450991591 CA380672847 |
46 | G>S | No |
ClinGen gnomAD |
|
|
CA6036160 rs199525346 |
48 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6036159 rs751583448 |
48 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3791665 CA6036157 rs767878306 |
49 | Y>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA380672807 rs1370378572 |
49 | Y>D | No |
ClinGen TOPMed |
|
|
CA380672785 rs1301385635 |
50 | K>N | No |
ClinGen gnomAD |
|
|
CA380672791 rs1342373598 |
50 | K>R | No |
ClinGen gnomAD |
|
|
CA6036156 COSM271057 rs755352659 |
55 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA380672719 rs1384951420 |
56 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380672711 rs1326172474 |
57 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380672699 rs1400114368 |
58 | T>A | No |
ClinGen gnomAD |
|
|
rs766869187 CA380672693 |
58 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766869187 CA6036154 |
58 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380672648 rs1188985517 |
62 | G>E | No |
ClinGen gnomAD |
|
|
rs1425094181 CA380672652 |
62 | G>W | No |
ClinGen gnomAD |
|
|
CA6036152 rs776184201 |
63 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380672641 rs776184201 |
63 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763553980 CA6036151 |
63 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs763553980 CA222885122 |
63 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6036150 rs760335386 |
64 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6036148 rs771842368 |
65 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745662250 CA6036147 |
65 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745662250 CA380672620 |
65 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281409153 CA380672618 |
66 | S>G | No |
ClinGen gnomAD |
|
|
rs774352529 CA6036146 |
66 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA222885113 rs555163370 |
68 | K>E | No |
ClinGen 1000Genomes |
|
|
CA6036145 rs770976284 |
68 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200861140 CA222885112 |
69 | K>Q | No |
ClinGen Ensembl |
|
|
CA222885108 rs865807355 |
70 | A>S | No |
ClinGen gnomAD |
|
|
CA380672590 rs865807355 |
70 | A>T | No |
ClinGen gnomAD |
|
|
rs1440656513 CA380672584 |
71 | I>V | No |
ClinGen gnomAD |
|
|
rs745378316 CA6036035 |
72 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1376554557 CA380672574 |
72 | K>R | No |
ClinGen gnomAD |
|
| rs1421550155 | 73 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171758477 CA380690659 |
73 | L>F | No |
ClinGen gnomAD |
|
|
rs370266683 CA6036033 |
77 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6036032 rs748977948 |
78 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA380690588 rs1232567652 |
79 | A>T | No |
ClinGen gnomAD |
|
|
rs755922901 CA6036030 |
79 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380690501 rs1565174816 |
83 | A>D | No |
ClinGen Ensembl |
|
|
rs1316801875 CA380690480 |
84 | P>L | No |
ClinGen TOPMed |
|
|
CA222901442 rs554798213 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554798213 CA6036026 COSM1704122 |
85 | V>M | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1348988490 CA380690442 |
86 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1238477755 CA380690413 |
88 | Q>E | No |
ClinGen gnomAD |
|
|
CA380690397 rs1590853469 |
88 | Q>H | No |
ClinGen Ensembl |
|
|
CA380690404 rs1250955857 |
88 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1370692227 CA380690365 |
90 | P>S | No |
ClinGen gnomAD |
|
|
rs763230993 CA6036022 |
91 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6036020 rs750697898 |
92 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310936648 CA380690289 |
94 | S>F | No |
ClinGen gnomAD |
|
|
rs776927698 CA6036017 |
95 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6036018 rs762273953 |
95 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6036016 rs769192468 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6036014 COSM3710202 rs199660597 |
96 | R>H | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6036015 rs199660597 |
96 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777413993 CA6036011 |
97 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6036012 rs529590239 COSM72892 |
97 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA380690199 rs1486266631 |
99 | E>D | No |
ClinGen gnomAD |
|
|
rs1214068187 CA380690174 |
101 | R>C | No |
ClinGen gnomAD |
|
|
rs747965526 CA6036009 |
101 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6036007 rs375289876 |
104 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1374818855 CA380690076 |
105 | S>L | No |
ClinGen gnomAD |
|
|
rs554487646 CA222901371 |
106 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs780234051 CA6036005 |
107 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380690049 rs1314727917 |
108 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380689986 rs1344393830 |
112 | T>I | No |
ClinGen gnomAD |
|
|
CA6036000 rs373104144 |
117 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380688831 rs1296495154 |
119 | S>P | No |
ClinGen gnomAD |
|
|
rs372636520 CA6035973 |
122 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355617199 CA380688812 |
122 | S>P | No |
ClinGen gnomAD |
|
|
rs768432008 CA6035972 |
123 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380688797 rs1192564393 |
124 | E>A | No |
ClinGen gnomAD |
|
|
CA380688773 rs1454421826 |
127 | A>V | No |
ClinGen gnomAD |
|
|
rs746777211 CA6035971 |
128 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1590838791 CA380688759 |
129 | E>D | No |
ClinGen Ensembl |
|
|
rs764670827 CA222898607 |
130 | G>S | No |
ClinGen Ensembl |
|
|
CA222898598 rs759090600 |
132 | S>N | No |
ClinGen TOPMed |
|
|
rs368961138 CA6035968 |
133 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380688737 rs368961138 |
133 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374646904 CA222898586 |
133 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374646904 CA6035967 |
133 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6035965 rs749465457 |
138 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6035966 rs757305732 |
138 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380688704 rs1333029974 |
139 | I>V | No |
ClinGen gnomAD |
|
|
rs1324709545 CA380688690 |
141 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380688679 rs1390891909 |
142 | S>N | No |
ClinGen gnomAD |
|
|
COSM929481 CA6035963 rs756422799 |
144 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380688654 rs1433427826 |
146 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6035962 rs753044343 |
147 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174628451 CA380688632 |
149 | E>K | No |
ClinGen gnomAD |
|
|
CA380688623 rs1590838512 |
150 | S>A | No |
ClinGen Ensembl |
|
|
rs767912007 CA6035961 |
151 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 153 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6035959 rs752087787 |
153 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA222898552 rs382505 |
154 | V>L | No |
ClinGen gnomAD |
|
|
CA380688602 rs382505 |
154 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6035957 rs761235165 |
155 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 155 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380688590 rs1310678258 |
156 | I>L | No |
ClinGen TOPMed |
|
|
rs1484633393 CA380688581 |
157 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380688556 rs1392094348 |
160 | Q>R | No |
ClinGen gnomAD |
|
|
CA380688544 rs1211321525 |
162 | L>M | No |
ClinGen gnomAD |
|
|
rs760427105 CA6035954 |
163 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380688539 rs1259120872 |
163 | P>S | No |
ClinGen gnomAD |
|
|
CA6035950 rs774442630 |
170 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6035947 rs753360206 |
175 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6035944 rs781492126 |
177 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA380688410 rs1441820938 |
182 | D>N | No |
ClinGen gnomAD |
|
|
CA380688384 rs1565169398 |
185 | H>Y | No |
ClinGen Ensembl |
|
|
rs409166 CA222898449 |
188 | E>K | No |
ClinGen Ensembl |
|
|
rs763698723 CA6035938 |
192 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6035937 rs760362204 |
195 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6035935 rs767362132 |
198 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs957726535 CA222898427 |
199 | H>D | No |
ClinGen Ensembl |
|
|
CA6035933 rs774264431 |
201 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA380688131 rs1590837934 |
203 | T>P | No |
ClinGen Ensembl |
|
|
CA380687447 rs1449782828 |
210 | P>L | No |
ClinGen gnomAD |
|
|
rs773218432 CA6035913 |
211 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA380687380 rs1247558578 |
220 | Y>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 223 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6035912 rs765238084 |
223 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196900235 CA380687340 |
226 | Y>C | No |
ClinGen gnomAD |
|
|
CA380687324 rs1227945548 |
228 | R>H | No |
ClinGen TOPMed |
|
|
rs1360412344 CA380687303 |
231 | R>C | No |
ClinGen gnomAD |
|
|
rs1287875291 CA380687300 |
231 | R>H | No |
ClinGen TOPMed |
|
|
CA6035907 rs775675185 |
233 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 235 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380687202 rs1247971782 |
240 | I>V | No |
ClinGen TOPMed |
|
|
rs1171498409 CA380687186 |
241 | P>A | No |
ClinGen gnomAD |
|
|
CA380687182 rs1590826538 |
241 | P>R | No |
ClinGen Ensembl |
|
|
rs906992744 CA222896186 |
243 | N>K | No |
ClinGen Ensembl |
|
|
rs747644251 CA6035902 |
245 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1193144880 CA380687079 |
249 | Q>E | No |
ClinGen gnomAD |
|
|
rs1468615857 CA380687074 |
249 | Q>P | No |
ClinGen gnomAD |
|
|
CA222896140 rs1045885238 |
250 | M>T | No |
ClinGen Ensembl |
|
|
CA380687024 rs1232396335 |
252 | T>S | No |
ClinGen gnomAD |
|
|
rs1278876785 CA380686926 |
259 | P>Q | No |
ClinGen gnomAD |
|
|
rs1590826369 CA380686887 |
262 | D>N | No |
ClinGen Ensembl |
|
|
CA380686854 rs1161075944 |
263 | G>E | No |
ClinGen TOPMed |
|
|
CA6035878 rs367997522 |
266 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 267 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6035877 COSM415507 rs757148651 |
267 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1293796462 CA380686580 |
271 | L>P | No |
ClinGen TOPMed |
|
|
CA6035873 rs752785972 |
276 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA380686504 rs1185128435 |
277 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6035872 rs767763018 |
278 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6035871 rs759722643 |
279 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763498081 CA6035868 |
281 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1322236082 CA380686407 |
284 | I>F | No |
ClinGen gnomAD |
|
|
rs964061683 CA222895730 |
285 | V>M | No |
ClinGen Ensembl |
|
|
rs770274366 CA6035866 |
286 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6035863 rs200881282 |
291 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372623413 CA6035864 COSM1289582 |
291 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1340510632 CA380686287 |
295 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778632328 CA6035861 |
299 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6035860 rs757056548 |
301 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA222895319 rs199681403 |
303 | D>G | No |
ClinGen 1000Genomes |
|
|
rs567302490 CA6035859 |
303 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA380686141 rs1255568585 |
304 | P>S | No |
ClinGen gnomAD |
|
|
CA6035826 rs773908428 |
308 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6035824 rs748975767 |
311 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1310464560 CA380686026 |
314 | D>N | No |
ClinGen gnomAD |
|
|
CA6035822 rs769497551 |
316 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6035823 rs570183644 |
316 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748059355 CA6035821 |
317 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1171594017 CA380685997 |
317 | V>M | No |
ClinGen gnomAD |
|
|
rs1590822415 CA380685982 |
318 | E>G | No |
ClinGen Ensembl |
|
|
rs780988996 CA6035820 |
318 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA222895269 rs149270654 |
321 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs149270654 CA380685948 |
321 | K>T | No |
ClinGen ESP TOPMed |
|
|
rs1590822358 CA380685924 |
323 | V>G | No |
ClinGen Ensembl |
|
|
rs747063751 CA6035818 |
324 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200864906 CA380685900 |
325 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380685905 rs1255254417 |
325 | M>T | No |
ClinGen gnomAD |
|
|
rs1484348018 CA380685885 |
327 | R>K | No |
ClinGen gnomAD |
|
|
rs750635278 CA6035816 |
328 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380685827 rs407158 |
332 | I>M | No |
ClinGen Ensembl |
|
|
CA222895255 VAR_052241 rs407740 |
332 | I>N | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA6035814 rs407740 |
332 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1329943264 CA380685834 |
332 | I>V | No |
ClinGen gnomAD |
|
|
rs1209878499 CA380685819 |
333 | F>C | No |
ClinGen TOPMed |
|
|
CA380685808 rs1232030208 |
334 | N>H | No |
ClinGen gnomAD |
|
|
CA380685805 rs1340438740 |
334 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs550321037 CA6035812 |
338 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6035810 rs375729679 |
340 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6035808 rs765905087 |
342 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762542794 CA6035807 |
343 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3809750 rs1183271930 CA380685720 |
343 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769558459 CA6035805 |
348 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM171177 rs747884194 CA6035804 |
349 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768684428 CA6035802 |
350 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034450526 CA222895209 |
352 | I>T | No |
ClinGen TOPMed |
|
|
rs780236303 CA6035800 |
352 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 355 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201342343 CA6035798 |
360 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380685515 rs1285369099 |
363 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA222895176 rs369608952 |
363 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs561209206 CA6035796 |
366 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs893822027 CA222895146 |
369 | K>R | No |
ClinGen gnomAD |
|
|
rs1016145807 CA222892087 |
371 | Y>C | No |
ClinGen Ensembl |
|
|
rs1201143497 CA380684982 |
374 | W>R | No |
ClinGen gnomAD |
|
|
CA380684958 rs375140012 |
376 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380684953 rs1226343594 |
377 | G>E | No |
ClinGen TOPMed |
|
|
rs1251803601 CA380684957 |
377 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 381 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 385 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380684875 rs1269888917 |
388 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380684863 rs1337663807 |
389 | A>V | No |
ClinGen TOPMed |
|
|
CA222892086 rs1000112747 |
390 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779095167 CA6035780 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473624129 CA380684858 |
391 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380684851 rs1274898225 |
392 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1348550240 CA380684833 |
395 | V>M | No |
ClinGen gnomAD |
|
|
rs1307341700 CA380684814 |
397 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757462525 CA222892080 |
403 | A>S | No |
ClinGen gnomAD |
No associated diseases with O43581
5 regional properties for O43581
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phox homology | 79 - 212 | IPR001683 |
| domain | Phospholipase D/Transphosphatidylase | 459 - 486 | IPR001736-1 |
| domain | Phospholipase D/Transphosphatidylase | 891 - 918 | IPR001736-2 |
| domain | Pleckstrin homology domain | 219 - 330 | IPR001849 |
| domain | Phospholipase D-like domain | 767 - 936 | IPR025202 |
Functions
17 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dense core granule | Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted. |
| early phagosome | A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis. |
| exocytic vesicle | A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| hippocampal mossy fiber to CA3 synapse | One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell. |
| integral component of presynaptic membrane | The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| peroxisomal membrane | The lipid bilayer surrounding a peroxisome. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
| synaptic vesicle membrane | The lipid bilayer surrounding a synaptic vesicle. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium-dependent phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| clathrin binding | Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| SNARE binding | Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein. |
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion regulated lysosome exocytosis | The process of secretion by a cell that results in the release of intracellular molecules contained within a lysosome by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels. |
| calcium ion-regulated exocytosis of neurotransmitter | The release of a neurotransmitter into the synaptic cleft by exocytosis of synaptic vesicles, where the release step is dependent on a rise in cytosolic calcium ion levels. |
| calcium-ion regulated exocytosis | The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
| phagosome-lysosome fusion | The creation of a phagolysosome from a phagosome and a lysosome. |
| plasma membrane repair | The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress. |
| positive regulation of calcium ion-dependent exocytosis | Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis. |
| regulation of bone remodeling | Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. |
| regulation of calcium ion-dependent exocytosis | Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis. |
| regulation of dopamine secretion | Any process that modulates the frequency, rate or extent of the regulated release of dopamine. |
| regulation of glucagon secretion | Any process that modulates the frequency, rate or extent of the regulated release of glucagon. |
| regulation of insulin secretion | Any process that modulates the frequency, rate or extent of the regulated release of insulin. |
| regulation of phagocytosis | Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. |
| short-term synaptic potentiation | The process by which synaptic transmission, induced by the arrival of a spike (action potential) at a synapse, acts to increase the amount of neurotransmitter released in response to the arrival of subsequent spikes. This effect is seen when a train of closely space spikes arrives at a synapse with a low initial release probability. It occurs in a timeframe of tens to hundreds of milliseconds. |
| synaptic vesicle recycling | The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane. |
| vesicle-mediated cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, or cholesterol-containing compounds, by membrane-bounded vesicles. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48018 | SYT1 | Synaptotagmin-1 | Bos taurus (Bovine) | PR |
| P21521 | Syt1 | Synaptotagmin 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XP0 | PLA2G4D | Cytosolic phospholipase A2 delta | Homo sapiens (Human) | PR |
| Q9HCH5 | SYTL2 | Synaptotagmin-like protein 2 | Homo sapiens (Human) | PR |
| Q96C24 | SYTL4 | Synaptotagmin-like protein 4 | Homo sapiens (Human) | PR |
| Q8N9U0 | TC2N | Tandem C2 domains nuclear protein | Homo sapiens (Human) | PR |
| Q8TDW5 | SYTL5 | Synaptotagmin-like protein 5 | Homo sapiens (Human) | PR |
| Q8IYJ3 | SYTL1 | Synaptotagmin-like protein 1 | Homo sapiens (Human) | PR |
| Q9BQG1 | SYT3 | Synaptotagmin-3 | Homo sapiens (Human) | PR |
| Q86SS6 | SYT9 | Synaptotagmin-9 | Homo sapiens (Human) | PR |
| O00445 | SYT5 | Synaptotagmin-5 | Homo sapiens (Human) | PR |
| P21579 | SYT1 | Synaptotagmin-1 | Homo sapiens (Human) | PR |
| Q9BT88 | SYT11 | Synaptotagmin-11 | Homo sapiens (Human) | PR |
| Q9H2B2 | SYT4 | Synaptotagmin-4 | Homo sapiens (Human) | PR |
| Q9BQS2 | SYT15 | Synaptotagmin-15 | Homo sapiens (Human) | PR |
| Q7L8C5 | SYT13 | Synaptotagmin-13 | Homo sapiens (Human) | PR |
| Q6XYQ8 | SYT10 | Synaptotagmin-10 | Homo sapiens (Human) | PR |
| Q5T7P8 | SYT6 | Synaptotagmin-6 | Homo sapiens (Human) | PR |
| P40749 | Syt4 | Synaptotagmin-4 | Mus musculus (Mouse) | PR |
| Q9EQT6 | Syt13 | Synaptotagmin-13 | Mus musculus (Mouse) | PR |
| Q9R0N4 | Syt10 | Synaptotagmin-10 | Mus musculus (Mouse) | PR |
| Q99N80 | Sytl1 | Synaptotagmin-like protein 1 | Mus musculus (Mouse) | PR |
| Q9R0Q1 | Sytl4 | Synaptotagmin-like protein 4 | Mus musculus (Mouse) | PR |
| Q8C6N3 | Syt15 | Synaptotagmin-15 | Mus musculus (Mouse) | PR |
| Q920N7 | Syt12 | Synaptotagmin-12 | Mus musculus (Mouse) | PR |
| Q80T23 | Sytl5 | Synaptotagmin-like protein 5 | Mus musculus (Mouse) | PR |
| Q9R0N5 | Syt5 | Synaptotagmin-5 | Mus musculus (Mouse) | PR |
| Q9R0N9 | Syt9 | Synaptotagmin-9 | Mus musculus (Mouse) | PR |
| Q9R0N8 | Syt6 | Synaptotagmin-6 | Mus musculus (Mouse) | PR |
| Q50L43 | Pla2g4d | Cytosolic phospholipase A2 delta | Mus musculus (Mouse) | PR |
| P46096 | Syt1 | Synaptotagmin-1 | Mus musculus (Mouse) | PR |
| Q9R0N3 | Syt11 | Synaptotagmin-11 | Mus musculus (Mouse) | PR |
| O35681 | Syt3 | Synaptotagmin-3 | Mus musculus (Mouse) | PR |
| P46097 | Syt2 | Synaptotagmin-2 | Mus musculus (Mouse) | PR |
| Q91XT6 | Tc2n | Tandem C2 domains nuclear protein | Mus musculus (Mouse) | PR |
| Q812E4 | Sytl5 | Synaptotagmin-like protein 5 | Rattus norvegicus (Rat) | PR |
| Q925B5 | Syt13 | Synaptotagmin-13 | Rattus norvegicus (Rat) | PR |
| O08625 | Syt10 | Synaptotagmin-10 | Rattus norvegicus (Rat) | PR |
| P47861 | Syt5 | Synaptotagmin-5 | Rattus norvegicus (Rat) | PR |
| Q62746 | Syt6 | Synaptotagmin-6 | Rattus norvegicus (Rat) | PR |
| P97610 | Syt12 | Synaptotagmin-12 | Rattus norvegicus (Rat) | PR |
| P40748 | Syt3 | Synaptotagmin-3 | Rattus norvegicus (Rat) | PR |
| Q925C0 | Syt9 | Synaptotagmin-9 | Rattus norvegicus (Rat) | PR |
| P59926 | Syt15 | Synaptotagmin-15 | Rattus norvegicus (Rat) | PR |
| P21707 | Syt1 | Synaptotagmin-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYRDPEAASP | GAPSRDVLLV | SAIITVSLSV | TVVLCGLCHW | CQRKLGKRYK | NSLETVGTPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGRGRSEKKA | IKLPAGGKAV | NTAPVPGQTP | HDESDRRTEP | RSSVSDLVNS | LTSEMLMLSP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GSEEDEAHEG | CSRENLGRIQ | FSVGYNFQES | TLTVKIMKAQ | ELPAKDFSGT | SDPFVKIYLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PDKKHKLETK | VKRKNLNPHW | NETFLFEGFP | YEKVVQRILY | LQVLDYDRFS | RNDPIGEVSI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLNKVDLTQM | QTFWKDLKPC | SDGSGSRGEL | LLSLCYNPSA | NSIIVNIIKA | RNLKAMDIGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TSDPYVKVWL | MYKDKRVEKK | KTVTMKRNLN | PIFNESFAFD | IPTEKLRETT | IIITVMDKDK |
| 370 | 380 | 390 | 400 | ||
| LSRNDVIGKI | YLSWKSGPGE | VKHWKDMIAR | PRQPVAQWHQ | LKA |